Monoallelic CAH-X CH-1 (n = 16)a | Monoallelic CAH-X CH-2 (n = 13) | Biallelic CAH-X (n = 3) | CAH-X carrier Relatives (n = 16) | CAH only (n = 70) | |
---|---|---|---|---|---|
Age, years (range) | 23.1 ± 10.5 (4–38) | 23.2 ± 15.5 (5–43) | 21.3 ± 7.6 (14–29) | 49.4 ± 16.2 (20–74) | 25.7 ± 14.9 (2–68) |
Female | 8 (50.0) | 7 (53.8) | 0 (0) | 10 (62.5) | 43 (61.4) |
Generalized hypermobilityb | 6 (42.9) (n = 14)e | 6 (46.2) | 3 (100) | 3 (20) (n = 15)e | 6 (12.2) (n = 49)e |
Subluxations | 6 (40.0) | 5 (38.5) | 2 (66.7) | 1(6.7) (n = 15)e | 12 (17.1) |
Chronic arthralgia | 5 (31.3) | 4 (30.8) | 1 (33.3) | 7 (43.8) | 2 (2.8) |
Chronic tendonitis | 2 (12.5) | 4 (30.8) | 0 (0) | 3 (20) (n = 15)e | 2 (2.8) |
Hyperextensible skin | 2 (12.5) | 7 (53.8) | 3 (100) | 0 (0) (n = 15)e | 0 (0) |
Wide scars | 3 (18.8) | 2 (15.4) | 2 (66.7) | 0 (0) (n = 15)e | 0 (0) |
Easy bruising | 5 (31.3) | 4 (30.8) | 3 (100) | 1 (6.7) (n = 15)e | 0 (0) |
Poor wound healing | 0 (0) | 0 (0) | 1 (33.3) | 0 (7.1) (n = 15)e | 0 (0) |
Gastrointestinal disorderc | 1 (6.3) | 4 (30.8) | 1 (33.3) | 0 (0) (n = 15)e | 4 (5.7) |
Hernia or rectal prolapse | 0 (0) | 3 (23.1) | 2 (66.7) | 1 (6.7) (n = 15)e | 1 (1.4) |
Congenital cardiac defectd | 3 (18.8) | 3 (23.1) | 0 (0) | 3 (20.0) (n = 15)e | 0 (0) |
Cardiac chamber enlargement | 2 (14.3) (n = 14)e | 0 (0) (n = 10)e | 2 (66.7) | 4 (26.7) (n = 15)e | 1 (2.9) (n = 35)e |
Enlarged aortic root | 0 (0) (n = 14)e | 2 (20) (n = 10)e | 0 (0) | 2 (13.3) (n = 15)e | 0 (0) (n = 34)e |